Variant Results

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Results for "FGFR3"

Variant Events: 8

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
FGFR3	SP0142921	chr4: 1795721-1795721	C	T	exonic		De novo	synonymous SNV	NM_000142 NM_001163213 NM_022965	c.C60T c.C60T c.C60T	p.A20A p.A20A p.A20A	-	-	Fu2022 E
FGFR3	PN400287	chr4: 1808636-1808636	G	A	exonic		Unknown	nonsynonymous SNV	NM_022965 NM_000142 NM_001163213	c.G1913A c.G2249A c.G2255A	p.R638H p.R750H p.R752H	19.53	4.504E-5	Leblond2019 E
FGFR3	Valentino2021:14	chr4: 1803571-1803571	C	G	exonic		De novo	nonsynonymous SNV	NM_000142 NM_001163213 NM_022965	c.C749G c.C749G c.C749G	p.P250R p.P250R p.P250R	16.65	-	Valentino2021 E
FGFR3	SP0076954	chr4: 1803571-1803571	C	G	exonic		De novo	nonsynonymous SNV	NM_000142 NM_001163213 NM_022965	c.C749G c.C749G c.C749G	p.P250R p.P250R p.P250R	16.65	-	Fu2022 E
FGFR3	GEA416	chr4: 1803571-1803571	C	G	exonic		De novo	nonsynonymous SNV	NM_000142 NM_001163213 NM_022965	c.C749G c.C749G c.C749G	p.P250R p.P250R p.P250R	16.65	-	Fu2022 E
FGFR3	SP0053359	chr4: 1806119-1806119	G	A	exonic		De novo	nonsynonymous SNV	NM_000142 NM_001163213	c.G1138A c.G1144A	p.G380R p.G382R	19.38	-	Fu2022 E
FGFR3	SP0077712	chr4: 1808468-1808468	T	G	intronic		De novo					-	-	Fu2022 E
FGFR3	Hu2022:17	chr4: 1807288-1807288	G	A	exonic		Maternal	nonsynonymous SNV	NM_022965 NM_000142 NM_001163213	c.G1201A c.G1537A c.G1543A	p.D401N p.D513N p.D515N	12.09	5.012E-5	Hu2022 T

Source Variant Information

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Paper Information

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Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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